LRRC8E Gene Summary [Human]

This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

Details

Type
Protein Coding
Official Symbol
LRRC8E
Official Name
leucine rich repeat containing 8 VRAC subunit E [Source:HGNC Symbol;Acc:HGNC:26272]
Ensembl ID
ENSG00000171017
Bio databases IDs NCBI: 80131 Ensembl: ENSG00000171017
Aliases leucine rich repeat containing 8 VRAC subunit E
Synonyms 1810049O03Rik, FLJ23420, leucine rich repeat containing 8 family, member E, leucine rich repeat containing 8 VRAC subunit E, RGD1311979
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LRRC8E often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • volume-sensitive anion channel
  • protein phosphatase 1 regulatory subunit 42
  • Leucine rich repeat
  • protein binding
  • Pannexin-like TM region of LRRC8
  • ion channel

Pathways

Biological processes and signaling networks where the LRRC8E gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • metabolic syndrome X
  • angioedema
  • diabetes mellitus
  • osteosarcoma
  • osteosarcomagenesis
  • infection by HIV-1
regulated by
regulates
  • TNF
  • L-aspartic acid
  • IFNB1
  • Cxcl10
  • CCL5
  • 2'3'-cyclic guanosine monophosphate-adenosine monophosphate
  • anion
role in cell
  • response by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • endoplasmic reticulum membrane
  • lysosome membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human LRRC8E gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cellular response to osmotic stress
  • aspartate transport
  • cell volume homeostasis

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • cytoplasm
  • ion channel complex
  • plasma membrane
  • lysosomal membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • volume-sensitive anion channel activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.